GynecologyGynecology2079-56962079-5831Consilium Medicum10083610.26442/20795696.2022.5.201688Research ArticleIncidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variantsRshtuniSandra D.<p>Graduate Student</p>rshtunisandra@gmail.comChernukhaGalina E.<p>D. Sci. (Med.), Prof.</p>g_chernukha@oparina4.ruDonnikovAndrew E.<p>Cand. Sci. (Med.)</p>a_donnikov@oparina4.ruTabeevaGyuzyal I.<p>Senior Res. Officer</p>doctor.gtab@gmail.comBurmenskayaOlga V.<p>D. Sci. (Biol.)</p>o_bourmenskaya@oparina4.ruMarchenkoLarisa A.<p>D. Sci. (Med.), Prof.</p>l_marchenko@yandex.ruKulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology301120222453743791602202215062022Copyright © 2022, Consilium Medicum2022<p><strong>Aim.</strong> To determine the incidence of premature ovarian failure (POF) and early menopause with regard to reproductive status in carriers of the pathogenic variant of the <em>BRCA1</em> gene.</p>
<p><strong>Materials and methods.</strong> According to the inclusion and exclusion criteria, out of 90 carriers of pathogenic variants of the <em>BRCA1</em> gene, 38 females were included in the study group, and 110 females without these pathogenic variants were included in the control group. The reproductive status, age of menopause onset, history of pelvic surgeries, and palliative care were evaluated in the study groups.</p>
<p><strong>Results. </strong>The incidence of POF in the group of carriers of pathogenic variants of the <em>BRCA1</em> gene was significantly higher compared to the control group (<em>p</em>0.004), while the incidence of early menopause showed no significant differences in the studied groups (13.2% vs. 4.5%, respectively; <em>p</em>0,069). No significant differences were found in the analysis of reproductive status.</p>
<p><strong>Conclusions.</strong> Females with and without pathogenic variants of the <em>BRCA1</em> gene did not differ significantly by the main indices of reproductive status. Carriers of pathogenic <em>BRCA1</em> gene variants have a significantly higher incidence of POF vs. controls. Adverse effects of pathogenic <em>BRCA</em> gene variants on women's ovarian reserve and reproductive potential cannot be excluded. Healthy carriers of pathogenic variants of the <em>BRCA1</em>/2 gene are recommended to plan pregnancy in the early reproductive period.</p>BRCA1/2DNA repair genescandidate genespremature ovarian failureearly menopauseBRCA1/2гены репарации ДНКгены-кандидатыпреждевременная недостаточность яичниковранняя менопауза[European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI; Webber L, Davies M, Anderson R, et al. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016;31(5):926-37. 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